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Biomedical subjects

Y Sugio

Publications and source records attributed to Y Sugio.

41 records · Page 3Linked to original sources

Successful treatment of echovirus meningoencephalitis in sex-linked agammaglobulinaemia by intrathecal and intravenous injection of high titre gammaglobulin.

A 7-year-old boy with sex-linked agammaglobulinaemia developed meningoencephalitis caused by echovirus type 11. He had convulsions, right hemiplegia, cortical motor aphasia, left abducens nerve paralysis, left hypoglossal nerve paralysis, and later became unconscious. Treatment by intravenous injection of conventional gammaglobulin and intrathecal alpha-interferon brought no clinical improvement, but intrathecal administration together with intravenous injection of gammaglobulin containing a high titre of anti-echovirus type 11 antibody was associated with a dramatic improvement in his clinical symptoms. After subsequent periodical (once or twice a week) administration of specific gammaglobulin for 8 months, the echovirus in his cerebrospinal fluid was no longer detected. These findings suggest that intrathecal injection combined with intravenous injection of high titre anti-echovirus type 11 antibody was effective in treating this case of echovirus meningoencephalitis in sex-linked agammaglobulinaemia.

Child↗

Effect of a new H2-blocker, famotidine, in reflux esophagitis among severely handicapped children.

Vomiting, hematemesis, and esophagitis resulting from gastroesophageal reflux or hiatal hernia are frequently observed in severely handicapped children. This study was conducted to determine whether the use of a new H2-antagonist, famotidine, could prevent recurrence of reflux esophagitis among such children. Seventeen severely handicapped, bedridden children admitted to a children's medical center between April 1985 and September 1986 were studied. All had vomiting or hematemesis as a main symptom, and the cause of esophagitis was suggested to be gastroesophageal reflux in 13 cases and hiatal hernia in four. Six had been previously treated with cimetidine or other drugs or a combination thereof without relief. Famotidine was administered at about 1 to 2 mg/kg/day, two times daily to patients weighing more than 10 kg and three times daily to those weighing less than 10 kg. In 13 cases, famotidine was administered intravenously for between seven and ten days and then given orally, while the rest were given the drug orally from the outset. The following results were obtained: (1) improvement was seen within seven days after start of famotidine treatment, and reduction of vomiting or hematemesis or both was reached within two weeks in 70% of cases and within three weeks in 94%; (2) famotidine was markedly effective in 29% and moderately effective in 41%; in no case was the drug ineffective; (3) no side effects were observed; five patients had transient, mild elevation of SGOT . SGPT, but this was not attributable to the drug.

Adolescent↗

46,X,i(Xq)/47,XX,+13 mosaicism.

A 10-year-old girl with short stature and other features of Turner's syndrome was found to be a mosaic consisting of 46,X,i(Xq) and 47,XX,+13 cell lines, a hitherto undescribed situation. She had none of the clinical features of trisomy 13 syndrome, with a possible exception of postaxial polydactyly of the left foot. Her PHA-stimulated blood lymphocytes and EB virus-transformed B lymphocytes both revealed the Xi(Xq)/XX,+13 mosaicism, while her skin fibroblasts showed an exclusively 46,X,i(Xq) karyotype. Studies using Q-and R-banding heteromorphisms as markers indicated that the patient started as a 13 trisomic zygote resulting from a maternal meiotic error, followed by the loss of chromosome 13 at an early mitotic division. C-banding analysis revealed two C banding blocks in the iso X chromosome, an indication that the chromosome was dicentric. BrdU-Hoechst-Giemsa analysis revealed that the iso X chromosome was late-replicating with both its arms either synchronously or asynchronously replicating. The iso X chromosome was thus designated as idic (Xq)(p11:p11). In view of the presence of the XX cell line, it was concluded that the patient started as an XX,+13 zygote, followed by two mitotic events, the loss of a chromosome 13 and the formation of the iso X chromosome, occurring either simultaneously or in succession.

Abnormalities, Multiple↗

Ruvalcaba syndrome: autosomal dominant inheritance.

A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes. Less frequently seen were osteochondritis of the lumbar vertebral bodies, cone-shaped epiphyses of the phalanges, and narrow diaphyses of the metacarpals and metatarsals. None of the affected individuals was mentally retarded. The propositus, a 3-year-old boy, and his mother were typically affected, while his 8-month-old sister, the 55-year-old maternal grandfather, and his 46-year-old younger sister had several of these manifestations. Information on the remaining four affected relatives was incomplete. The syndrome was transmitted in a dominant fashion with variable expressivity. There were two instances of male-to-male transmission. This effectively ruled out X-linked inheritance. The transmission of the syndrome in three other reported pedigrees was also compatible with autosomal dominant inheritance with variable expressivity and incomplete penetrance.

Abnormalities, Multiple↗